Variant report

Variant	rs2235305
Chromosome Location	chr1:169579645-169579646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12067152	1.00[JPT][hapmap]
rs1800805	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs1800808	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs2235302	0.84[ASN][1000 genomes]
rs2235303	0.92[ASN][1000 genomes]
rs2235304	0.86[ASN][1000 genomes]
rs2236868	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs3917675	0.86[JPT][hapmap]
rs3917681	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs3917682	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs3917709	0.93[JPT][hapmap]
rs3917729	0.86[CHB][hapmap];0.93[JPT][hapmap]
rs6131	0.93[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv517483	chr1:169576568-169581258	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169565400-169581400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:169570400-169585400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:169574800-169583000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:169575200-169580600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:169576000-169580200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:169576400-169580800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:169576600-169585200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:169578000-169580200	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:169578800-169584200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:169579000-169579800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:169579000-169580400	Enhancers	HUVEC	blood vessel
12	chr1:169579200-169579800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr1:169579400-169581400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:169579600-169579800	Enhancers	Primary B cells from cord blood	blood
15	chr1:169579600-169582000	Weak transcription	Primary T cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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